| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (48.3%) |
3799721 |
de la Chapelle dysplasia. Whitley CB, Burke BA, Granroth G, Gorlin RJ. Am J Med Genet. 1986;25(1):29-39. |
| Laryngeal stenosis Micromelia Small hand | ||
| Belgium Differential Diagnosis Females Finland Genes, Recessive Homo sapiens Infant, Newborn Male Osteochondrodysplasias Phenotype | ||
| 2 (45.8%) |
1279661 |
Atelosteogenesis type II: sonographic and radiological correlation. Nores JA, Rotmensch S, Romero R, Avila C, Inati M, Hobbins JC. Prenat Diagn. 1992;12(9):741-53. |
| Talipes equinovarus Micromelia Deviation of the thumb | ||
| Abortion, Eugenic Adult Connective Tissue Diseases Females Gestational Age Homo sapiens Osteochondrodysplasias Pregnancy Ultrasonography, Prenatal alpha-Fetoproteins | ||
| 3 (35.4%) |
21985323 |
Atelosteogenesis type I: autopsy findings. Wessels A, Wainwright HC, Beighton P. Pediatr Dev Pathol. 2011;14(6):496-500. |
| Hitchhiker thumb | ||
| Abortion, Eugenic Autopsy Females Fetus Gestational Age Homo sapiens Limb Deformities, Congenital Male Maternal Age Middle Aged Osteochondrodysplasias Pregnancy Ultrasonography, Prenatal | ||
| 4 (32.7%) |
23840040 |
A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia. Zechi-Ceide RM, Moura PP, Raskin S, Richieri-Costa A, Guion-Almeida ML. Am J Med Genet A. 2013;161A(8):2088-94. |
| Genu valgum | ||
| SLC26A2 | ||
| c|SUB|T|-26+2|C;RS#:386833492 p|SUB|R|279|W;RS#:104893915 | ||
| Adult Anion Transport Proteins Brazil Child Dwarfism Females Heterozygote Homo sapiens Male Mutation Osteochondrodysplasias Osteogenesis Phenotype Pierre Robin Syndrome Sibling | ||
| 5 (32.2%) |
12966518 |
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. Makitie O, Savarirayan R, Bonafe L, Robertson S, Susic M, Superti-Furga A, Cole WG. Am J Med Genet A. 2003;122A(3):187-92. |
| Hip dysplasia Epiphyseal dysplasia | ||
| SLC26A2 | ||
| c|SUB|T|1984|A;RS#:104893924 p|SUB|C|653|S;RS#:104893924 p|SUB|R|279|W;RS#:104893915 rs104893924 rs386833497 | ||
| Amino Acid Substitution Anion Transport Proteins Carrier Proteins Child Child, Preschool DNA DNA Mutational Analysis Females Genes, Recessive Homo sapiens Homozygote Male Membrane Transport Proteins Mutation Osteochondrodysplasias Patella | ||
| 6 (22.8%) |
9843047 |
Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type II. Brodie SG, Lachman RS, Crandall BF, Fox MA, Rimoin DL, Cohn DH, Wilcox WR. Am J Med Genet. 1998;80(3):247-51. |
| Overgrowth Talipes equinovarus | ||
| Aggrecans Cartilage Oligomeric Matrix Protein Chondroitin Sulfate Proteoglycans Dwarfism Extracellular Matrix Proteins Fetal Diseases Glycoproteins Homo sapiens Lectins, C-Type Matrilin Proteins Osteochondrodysplasias Proteoglycan Versicans | ||
| 7 (21.2%) |
9219013 |
A collaborative approach to the diagnosis of a lethal short limb skeletal dysplasia. Carvalho L, Soares M, Feijoo MJ, Gaspar M, Ferreira F. Genet Couns. 1997;8(2):139-43. |
| Skeletal dysplasia | ||
| Ectromelia Femur Genes, Lethal Hereditary Multiple Exostoses Homo sapiens Male | ||
| 7 (21.2%) |
7632220 |
De la Chapelle dysplasia (atelosteogenesis type II): case report and review of the literature [corrected]. Schrander-Stumpel C, Havenith M, Linden EV, Maertzdorf W, Offermans J, van der Harten J. Clin Dysmorphol. 1994;3(4):318-27. |
| Skeletal dysplasia | ||
| Adult Asphyxia Neonatorum Autopsy Cleft Palate Diseases in Twins Fatal Outcome Females Genes, Recessive Homo sapiens Infant, Newborn Male Osteochondrodysplasias |
Total: 53
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0009826 | Limb undergrowth | Very frequent (99-80%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000470 | Short neck | Frequent (79-30%) |
| HP:0000773 | Short ribs | Frequent (79-30%) |
| HP:0000774 | Narrow chest | Frequent (79-30%) |
| HP:0001156 | Brachydactyly | Frequent (79-30%) |
| HP:0001193 | Ulnar deviation of the hand or of fingers of the hand | Frequent (79-30%) |
| HP:0001230 | Broad metacarpals | Frequent (79-30%) |
| HP:0001234 | Hitchhiker thumb | Frequent (79-30%) |
| HP:0001591 | Bell-shaped thorax | Frequent (79-30%) |
| HP:0001602 | Laryngeal stenosis | Frequent (79-30%) |
| HP:0001776 | Bilateral talipes equinovarus | Frequent (79-30%) |
| HP:0001840 | Metatarsus adductus | Frequent (79-30%) |
| HP:0001852 | Sandal gap | Frequent (79-30%) |
| HP:0001999 | Abnormal facial shape | Frequent (79-30%) |
| HP:0002089 | Pulmonary hypoplasia | Frequent (79-30%) |
| HP:0002786 | Tracheobronchomalacia | Frequent (79-30%) |
| HP:0002857 | Genu valgum | Frequent (79-30%) |
| HP:0003097 | Short femur | Frequent (79-30%) |
| HP:0003423 | Thoracolumbar kyphoscoliosis | Frequent (79-30%) |
| HP:0004991 | Rhizomelic arm shortening | Frequent (79-30%) |
| HP:0005257 | Thoracic hypoplasia | Frequent (79-30%) |
| HP:0006009 | Broad phalanx | Frequent (79-30%) |
| HP:0006375 | Dumbbell-shaped femur | Frequent (79-30%) |
| HP:0006385 | Short lower limbs | Frequent (79-30%) |
| HP:0008110 | Equinovarus deformity | Frequent (79-30%) |
| HP:0008752 | Laryngeal cartilage malformation | Frequent (79-30%) |
| HP:0008905 | Rhizomelia | Frequent (79-30%) |
| HP:0009803 | Short phalanx of finger | Frequent (79-30%) |
| HP:0009824 | Upper limb undergrowth | Frequent (79-30%) |
| HP:0010049 | Short metacarpal | Frequent (79-30%) |
| HP:0012385 | Camptodactyly | Frequent (79-30%) |
| HP:0012427 | Excessive femoral anteversion | Frequent (79-30%) |
| HP:0100694 | Tibial torsion | Frequent (79-30%) |
| HP:0000219 | Thin upper lip vermilion | Occasional (29-5%) |
| HP:0000286 | Epicanthus | Occasional (29-5%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000343 | Long philtrum | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000369 | Low-set ears | Occasional (29-5%) |
| HP:0000506 | Telecanthus | Occasional (29-5%) |
| HP:0001357 | Plagiocephaly | Occasional (29-5%) |
| HP:0001538 | Protuberant abdomen | Occasional (29-5%) |
| HP:0001561 | Polyhydramnios | Occasional (29-5%) |
| HP:0002947 | Cervical kyphosis | Occasional (29-5%) |
| HP:0002983 | Micromelia | Occasional (29-5%) |
| HP:0002987 | Elbow flexion contracture | Occasional (29-5%) |
| HP:0004664 | Facial midline hemangioma | Occasional (29-5%) |
| HP:0008434 | Hypoplastic cervical vertebrae | Occasional (29-5%) |
| HP:0011800 | Midface retrusion | Occasional (29-5%) |
| HP:0012810 | Wide nasal base | Occasional (29-5%) |
| HP:0100337 | Bilateral cleft palate | Occasional (29-5%) |
| HP:0003042 | Elbow dislocation | Very rare (4-1%) |
Total: 4
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002652 | Skeletal dysplasia | 2 |
| HP:0001234 | Hitchhiker thumb | 1 |
| HP:0001762 | Talipes equinovarus | 1 |
| HP:0002983 | Micromelia | 1 |